Canonical Allele Identifier: CA2695217492
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988917_120988918del , CM000674.2:g.120988917_120988918del GRCh38
NC_000012.11:g.121426720_121426721del , CM000674.1:g.121426720_121426721del GRCh37
NC_000012.10:g.119911103_119911104del NCBI36
NG_011731.2:g.15172_15173del , LRG_522:g.15172_15173del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.411_412del ENSP00000453965.2:p.Gly138ProfsTer?
ENST00000257555.11:c.411_412del MANE Select ENSP00000257555.5:p.Gly138ProfsTer?
ENST00000257555.10:c.411_412del ENSP00000257555.4:p.Gly138ProfsTer?
ENST00000400024.6:c.411_412del ENSP00000476181.1:p.Gly138ProfsTer?
ENST00000402929.5:n.546_547del
ENST00000535955.5:n.43-8574_43-8573del
ENST00000538626.2:n.191-8574_191-8573del
ENST00000538646.5:c.411_412del ENSP00000443964.1:p.Gly138ProfsTer?
ENST00000540108.1:c.327-4603_327-4602del ENSP00000445445.1:n.327-4603_327-4602del
ENST00000541395.5:c.411_412del ENSP00000443112.1:p.Gly138ProfsTer?
ENST00000541924.5:c.411_412del ENSP00000440361.1:p.Gly138ProfsTer?
ENST00000543427.5:c.411_412del ENSP00000439721.2:p.Gly138ProfsTer?
ENST00000544413.2:c.411_412del ENSP00000438804.1:p.Gly138ProfsTer?
ENST00000544574.5:c.73-7700_73-7699del ENSP00000438565.1:n.73-7700_73-7699del
ENST00000560968.5:c.554_555del
ENST00000615446.4:c.-257-7345_-257-7344del ENSP00000483994.1:n.-257-7345_-257-7344del
ENST00000617366.4:c.411_412del ENSP00000481967.1:p.Gly138ProfsTer?
NM_000545.5:c.411_412del , LRG_522t1:c.411_412del NP_000536.5:p.Gly138ProfsTer?
NM_000545.6:c.411_412del NP_000536.5:p.Gly138ProfsTer?
NM_001306179.1:c.411_412del NP_001293108.1:p.Gly138ProfsTer?
XM_005253931.2:c.411_412del XP_005253988.1:p.Gly138ProfsTer?
XM_024449168.1:c.411_412del XP_024304936.1:p.Gly138ProfsTer?
NM_000545.8:c.411_412del MANE Select NP_000536.6:p.Gly138ProfsTer?
NM_001306179.2:c.411_412del NP_001293108.2:p.Gly138ProfsTer?
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